The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

BACKGROUND: The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections. METHODS: A reference list of patient registry-based indicators has been prepared building on the work of previous EU projects and on the platform stakeholders' information needs resulting from the EPIRARE surveys and consultations. The variables necessary to compute these indicators have been analysed for their scope and use and then organized in data domains. RESULTS: The reference indicators span from disease surveillance, to socio-economic burden, HS monitoring, research and product development, policy equity and effectiveness. The variables necessary to compute these reference indicators have been selected and, with the exception of more sophisticated indicators for research and clinical care quality, they can be collected as data elements common (CDE) to all rare diseases. They have been organized in data domains characterized by their contents and main goal and a limited set of mandatory data elements has been defined, which allows case notification independently of the physician or the health service. CONCLUSIONS: The definition of a set of CDE for the European platform for RD patient registration is the first step in the promotion of the use of common tools for the collection of comparable data. The proposed organization of the CDE contributes to the completeness of case ascertainment, with the possible involvement of patients and patient associations in the registration process.This work is part of the activities of the project titled “Building Consensus and synergies for the EU Registration of Rare Disease Patients” (EPIRARE), funded by the European Commission within the framework of the Health Project, Work Plan 2010 (Grant n. 20101202).S

How Are the Interests of Incapacitated Research Participants Protected through Legislation? An Italian Study on Legal Agency for Dementia Patients

Patients with dementia may have limited capacity to give informed consent to participate in clinical research. One possible way to safeguard the patients' interests in research is the involvement of a proxy in the recruitment process. In Italy, the system of proxy is determined by the courts. In this study we evaluate the timing for appointment of a legal proxy in Italy and identify predictive variables of appointment.Subjects were recruited among the outpatients seeking medical advice for cognitive complaints at the Centre for Research and Treatment of Cognitive Dysfunctions, University of Milan, "Luigi Sacco" Hospital. The Centre was participating to the AdCare Study, a no-profit randomised clinical trial coordinated by the Italian National Institute of Health. The requirement that informed consent be given by a legal representative dramatically slowed down the recruitment process in AdCare, which was prematurely interrupted. The Centre for Research and Treatment of Cognitive Dysfunctions collected data on the timing required to appoint the legal representatives. Patients diagnosed with dementia and their caregivers were provided information on the Italian law on legal agency (law 6/2004). At each scheduled check-up the caregiver was asked whether she/he had applied to appoint a legal proxy for the patient and the time interval between the presentation of the law, the registration of the application at the law court chancellery and the sentence of appointment was registered. The study involved 169 demented patients. Seventy-eight patients (46.2%) applied to appoint a legal proxy. These subjects were usually younger, had been suffering from dementia for a longer time, had less than two children and made more use of memantine. The mean interval time between the presentation of the law and the patients' application to the law court chancellery was two months. The mean interval time between the patient's application to the law court chancellery and the sentence of appointment was four months.In Italy the requirement that legal representatives be appointed by the courts slows down subjects' participation in research. Other procedures for legal agency of the incapacitated patients may be adopted, taking as examples other EU countries' systems

Nonurgent patients in the emergency department? A French formula to prevent misuse

<p>Abstract</p> <p>Background</p> <p>Overcrowding in emergency department (EDs) is partly due to the use of EDs by nonurgent patients. In France, the authorities responded to the problem by creating primary care units (PCUs): alternative structures located near hospitals. The aims of the study were to assess the willingness of nonurgent patients to be reoriented to a PCU and to collect the reasons that prompted them to accept or refuse.</p> <p>Methods</p> <p>We carried out a cross sectional survey on patients' use of EDs. The study was conducted in a French hospital ED. Patients were interviewed about their use of health services, ED visits, referrals, activities of daily living, and insurance coverage status. Patients' medical data were also collected.</p> <p>Results</p> <p>85 patients considered nonurgent by a triage nurse were asked to respond to a questionnaire. Sex ratio was 1.4; mean age was 36.3 +/- 11.7 years.</p> <p>Most patients went to the ED autonomously (76%); one third (31.8%) had consulted a physician. The main reasons for using the ED were difficulty to get an appointment with a general practitioner (22.3%), feelings of pain (68.5%), and the availability of medical services in the ED, like imaging, laboratory tests, and drug prescriptions (37.6%). Traumatisms and wounds were the main medical reasons for going to the ED (43.5%).</p> <p>More than two-thirds of responders (68%) were willing to be reoriented towards PCUs. In the multivariate analysis, only employment and the level of urgency perceived by the patient were associated with the willingness to accept reorientation. Employed persons were 4.5 times more likely to accept reorientation (OR = 4.5 CI (1.6-12.9)). Inversely, persons who perceived a high level of urgency were the least likely to accept reorientation (OR = 0.9 CI (0.8-0.9).</p> <p>Conclusions</p> <p>Our study provides information on the willingness of ED patients to accept reorientation and shows the limits of its feasibility. Alternative structures such as PCUs near the ED seem to respond appropriately to the growing demands of nonurgent patients. Reorientation, however, will be successful only if the new structures adapt their opening hours to the needs of nonurgent patients and if their physicians can perform specific technical skills.</p

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Functional Genomics of Muscle, Nerve and Brain Disorder

Poster Barcelona RECs

Research Ethics Committees have a key role in the governance and oversight of research projects conducted on old data and on the use of platforms for data sharing on rare diseases. However RECs members usually do not have any expertise on linked data technologies. <div><div>  In connection with Elixir, RD-Connect will make proposals to undertake a pilot training program for RECs on the most relevant ethical aspects of Linked Data technology, in particular:</div><div><br></div><div>•The values and principles lying behind a data linkage approach</div><div>•The risks and benefits of a data linkage based project</div><div>•The  implications for informed consent and patient participation</div><div><br></div><div>At the same time, REC evaluations and Informed Consent  should be linked to other research activities and become  computer readable, in order to automate the sharing of data for which consent or REC approval is available. </div></div

RD-Connect ID-Cards of biobanks and registries- making RD data FAIR.pptx

<p>The RD-Connect ID-Cards (http://catalogue.rd-connect.eu) aims at concentrating sparse information on RD patients in one unique source by showing the number of samples/cases included in biobanks and registries, providing a first gateway towards more intense data sharing, and increasing the integration of biobanks and registries.<br></p

A personalist approach to public-health ethics

First we give an overview of the historical development of public health. Then we present some public-health deontology codes and some ethical principles. We highlight difficulties in defining ethics for public health, with specific reference to three of them that concern: (i) the adaptability to public health of the classical principles of bioethics; (ii) the duty to respect and safeguard the individual while acting within the community perspective that is typical of public health; and (iii) the application-oriented nature of public health and the general lack of attention towards the ethical implications of collective interventions (compared with research)